Varaico: Literature-Extracted Genetic Variants

ATP6V1B1

272 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

ATP-synt_ab_Naa 44–110UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 167–393UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 398–498UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit B1

HGNC Previous Symbols

VPP3; ATP6B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_001692.4

p.G78R

c.232G>C

Surrounding Variants

11 papers

NM_001692.4

p.G78R

c.232G>A

1 paper

NM_001692.4

p.S77R

c.231C>A

1 paper

NM_001692.4

p.S77R

c.231C>G

1 paper

NM_001692.4

p.G78E

c.233G>A

1 paper

NM_001692.4

p.G78A

c.233G>C

1 paper

NM_001692.4

p.Q79delFs

c.235delC

1 paper

NM_001692.4

p.S77R

c.229A>C

4 papers

NM_001692.4

p.R76S

c.228G>C

5 papers

NM_001692.4

p.R76S

c.228G>T

18 papers

NM_001692.4

p.L81P

c.242T>C

1 paper

NM_001692.4

p.T74S

c.221C>G

1 paper

NM_001692.4

p.T74S

c.220A>T